Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.85283611A>G , CM000674.2:g.85283611A>G | GRCh38 |
| NC_000012.11:g.85677389A>G , CM000674.1:g.85677389A>G | GRCh37 |
| NC_000012.10:g.84201520A>G | NCBI36 |
| NG_023202.1:g.8354A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000316824.4:c.266A>G MANE Select | ENSP00000315417.3:p.His89Arg | |
| ENST00000316824.3:c.266A>G | ENSP00000315417.3:p.His89Arg | |
| NM_006982.2:c.266A>G | NP_008913.2:p.His89Arg | |
| XM_005269165.3:c.266A>G | XP_005269222.1:p.His89Arg | |
| XM_011538782.1:c.-20A>G | XP_011537084.1:n.-20A>G | |
| XM_011538783.1:c.-20A>G | XP_011537085.1:n.-20A>G | |
| XM_011538782.2:c.-20A>G | XP_011537084.1:n.-20A>G | |
| NM_006982.3:c.266A>G MANE Select | NP_008913.2:p.His89Arg |